Linked Data
ClinVar Variation Id:
1119235
ClinVar RCV Id:
RCV001448612
dbSNP Id:
rs2102666930
MyVariant Identifiers:
chr1:g.215848803T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675461T>C , CM000663.2:g.215675461T>C | GRCh38 |
| NC_000001.10:g.215848803T>C , CM000663.1:g.215848803T>C | GRCh37 |
| NC_000001.9:g.213915426T>C | NCBI36 |
| NG_009497.1:g.752936A>G | |
| NG_009497.2:g.752988A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12450A>G MANE Select | ENSP00000305941.3:p.Thr4150= | |
| ENST00000674083.1:c.12450A>G | ENSP00000501296.1:p.Thr4150= | |
| ENST00000307340.7:c.12450A>G | ENSP00000305941.3:p.Thr4150= | |
| NM_206933.2:c.12450A>G | NP_996816.2:p.Thr4150= | |
| NM_206933.3:c.12450A>G | NP_996816.2:p.Thr4150= | |
| NM_206933.4:c.12450A>G MANE Select | NP_996816.3:p.Thr4150= |